ClinVar for MedGen (Select 1678048) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240272	NM_005055.5(RAPSN):c.422del (p.Lys141fs)	RAPSN (K141fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 3236670	NM_005055.5(RAPSN):c.803G>T (p.Arg268Met)	RAPSN (R268M)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 2	GUncertain significance
Select item 2949109	NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)	RAPSN (Q245*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 2 +2 more	GPathogenic/Likely pathogenic
Select item 2678236	NM_005055.5(RAPSN):c.157del (p.His53fs)	RAPSN (H53fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678235	NM_005055.5(RAPSN):c.192+2T>G	RAPSN	Single nucleotide variant (splice donor variant)	Fetal akinesia deformation sequence 1 +3 more	GPathogenic
Select item 2678234	NM_005055.5(RAPSN):c.1174C>T (p.Gln392Ter)	RAPSN (Q333* +1 more)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678233	NM_005055.5(RAPSN):c.690+1G>A	RAPSN	Single nucleotide variant (splice donor variant)	Fetal akinesia deformation sequence 2	GPathogenic
Select item 2678231	NM_005055.5(RAPSN):c.737_738insA (p.Leu247fs)	RAPSN (L247fs)	Insertion (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678230	NM_005055.5(RAPSN):c.86G>A (p.Trp29Ter)	RAPSN (W29*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678229	NM_005055.5(RAPSN):c.1142dup (p.Cys382fs)	RAPSN (C323fs +1 more)	Duplication (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678228	NM_005055.5(RAPSN):c.913-1G>C	RAPSN	Single nucleotide variant (intron variant +1 more)	Congenital myasthenic syndrome 11 +2 more	GLikely pathogenic
Select item 2678227	NM_005055.5(RAPSN):c.967-2A>G	RAPSN	Single nucleotide variant (splice acceptor variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678226	NM_005055.5(RAPSN):c.1207del (p.Arg403fs)	RAPSN (R344fs +1 more)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2678225	NM_005055.5(RAPSN):c.193-5_201del	RAPSN	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 11 +2 more	GLikely pathogenic
Select item 2678224	NM_005055.5(RAPSN):c.288del (p.Cys97fs)	RAPSN (C97fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 1 +2 more	GPathogenic/Likely pathogenic
Select item 2678223	NM_005055.5(RAPSN):c.39del (p.Leu14fs)	RAPSN (L14fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 2	GLikely pathogenic
Select item 2506372	NM_005055.5(RAPSN):c.912+1G>A	RAPSN	Single nucleotide variant (intron variant +1 more)	Fetal akinesia deformation sequence 2	GPathogenic
Select item 2506359	NM_005055.5(RAPSN):c.624C>G (p.Ser208Arg)	RAPSN (S208R)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +1 more	GConflicting classifications of pathogenicity
Select item 2137088	NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)	RAPSN	Deletion (nonsense)	Congenital myasthenic syndrome 11 +2 more	GPathogenic
Select item 2057011	NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)	RAPSN (R242W)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GConflicting classifications of pathogenicity
Select item 1727211	NM_005055.5(RAPSN):c.1045G>A (p.Val349Ile)	RAPSN (V290I +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2	GUncertain significance
Select item 1705170	NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)	RAPSN (E94K)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +5 more	GConflicting classifications of pathogenicity
Select item 1481997	NM_005055.5(RAPSN):c.966+1_966+2delinsAG	RAPSN	Indel (intron variant +1 more)	Fetal akinesia deformation sequence 2 +2 more	GPathogenic/Likely pathogenic
Select item 1455976	NM_005055.5(RAPSN):c.210del (p.Ile70fs)	RAPSN (I70fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 2 +2 more	GPathogenic/Likely pathogenic
Select item 1428667	NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser)	RAPSN (G364S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +3 more	GUncertain significance
Select item 1416981	NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter)	RAPSN (Q238*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 1 +2 more	GPathogenic
Select item 1407774	NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys)	RAPSN (E180K)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 1372095	NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln)	RAPSN (K60Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1323519	NM_005055.5(RAPSN):c.300_319del (p.His100fs)	RAPSN (H100fs)	Deletion (frameshift variant)	Fetal akinesia deformation sequence 1 +2 more	GPathogenic/Likely pathogenic
Select item 1285362	NM_005055.5(RAPSN):c.491G>A (p.Arg164His)	RAPSN (R164H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1073878	NM_005055.5(RAPSN):c.46dup (p.Leu16fs)	RAPSN (L16fs)	Duplication (frameshift variant)	Fetal akinesia deformation sequence 2 +2 more	GPathogenic
Select item 1072315	NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter)	RAPSN (W200*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 2 +2 more	GPathogenic/Likely pathogenic
Select item 1070359	NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter)	RAPSN (Q140*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 2 +2 more	GPathogenic/Likely pathogenic
Select item 1067929	NM_005055.5(RAPSN):c.531+1G>T	RAPSN	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 11 +2 more	GPathogenic/Likely pathogenic
Select item 990464	NM_005055.5(RAPSN):c.847C>G (p.Leu283Val)	RAPSN (L283V)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 2 +2 more	GUncertain significance
Select item 990463	NM_005055.5(RAPSN):c.985C>T (p.His329Tyr)	RAPSN (H270Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 990458	NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile)	RAPSN (M348I +1 more)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +2 more	GUncertain significance
Select item 952498	NM_005055.5(RAPSN):c.11dup (p.Asp4fs)	RAPSN (D4fs)	Duplication (frameshift variant)	Fetal akinesia deformation sequence 2 +2 more	GPathogenic/Likely pathogenic
Select item 879296	NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)	RAPSN (G122R)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +4 more	GUncertain significance
Select item 878747	NM_005055.5(RAPSN):c.-23G>A	RAPSN	Single nucleotide variant (5 prime UTR variant)	Fetal akinesia deformation sequence 1 +2 more	GUncertain significance
Select item 859852	NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)	RAPSN (A142D)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +4 more	GConflicting classifications of pathogenicity
Select item 856323	NM_005055.5(RAPSN):c.493G>A (p.Val165Met)	RAPSN (V165M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +4 more	GPathogenic/Likely pathogenic
Select item 847394	NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)	RAPSN (K314del +1 more)	Microsatellite (inframe_deletion)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 802677	NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)	RAPSN (Q21*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 1 +2 more	GPathogenic/Likely pathogenic
Select item 705720	NM_005055.5(RAPSN):c.831C>T (p.Thr277=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +2 more	GLikely benign
Select item 689780	NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr)	RAPSN (A153T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +3 more	GConflicting classifications of pathogenicity
Select item 689779	NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)	RAPSN (G291D)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 2 +3 more	GConflicting classifications of pathogenicity
Select item 664620	NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)	RAPSN (E333* +1 more)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 2 +2 more	GPathogenic
Select item 647539	NM_005055.5(RAPSN):c.215C>T (p.Thr72Met)	RAPSN (T72M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +3 more	GUncertain significance
Select item 632161	NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs)	RAPSN (E285fs +1 more)	Deletion (frameshift variant)	RAPSN-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 545747	NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)	RAPSN (N393fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 542737	NM_005055.5(RAPSN):c.889G>A (p.Val297Met)	RAPSN (V297M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 497298	NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)	RAPSN (R91L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +4 more	GConflicting classifications of pathogenicity
Select item 476123	NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys)	RAPSN (R217C)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +2 more	GUncertain significance
Select item 476121	NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)	RAPSN (Q124*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 2 +3 more	GPathogenic/Likely pathogenic
Select item 381702	NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)	RAPSN (E147K)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +4 more	GPathogenic/Likely pathogenic
Select item 304980	NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)	RAPSN (V138I)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +3 more	GConflicting classifications of pathogenicity
Select item 304970	NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)	RAPSN (V356M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 304968	NM_005055.5(RAPSN):c.*57C>T	RAPSN	Single nucleotide variant (3 prime UTR variant)	Fetal akinesia deformation sequence 2 +3 more	GBenign
Select item 264677	NM_005055.4(RAPSN):c.-199C>G	RAPSN	Single nucleotide variant	Congenital myasthenic syndrome +3 more	GPathogenic/Likely pathogenic
Select item 259627	NM_005055.5(RAPSN):c.193-15C>T	RAPSN	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +3 more	GBenign
Select item 259623	NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)	RAPSN	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 197249	NM_005055.5(RAPSN):c.691-11del	RAPSN	Deletion (intron variant)	Congenital Myasthenic Syndrome, Recessive +5 more	GBenign
Select item 197248	NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)	RAPSN (A246V)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +3 more	GPathogenic/Likely pathogenic
Select item 130092	NM_005055.5(RAPSN):c.855G>A (p.Gln285=)	RAPSN	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 2 +3 more	GBenign
Select item 130091	NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 2 +3 more	GBenign
Select item 130090	NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)	RAPSN (R58C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +3 more	GBenign/Likely benign
Select item 130089	NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)	RAPSN	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 2 +3 more	GBenign
Select item 8059	NM_005055.5(RAPSN):c.566C>T (p.Ala189Val)	RAPSN (A189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 8058	NM_005055.5(RAPSN):c.416T>C (p.Phe139Ser)	RAPSN (F139S)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2	GPathogenic
Select item 8056	NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)	RAPSN (E162K)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +2 more	GPathogenic
Select item 8055	NM_005055.5(RAPSN):c.133G>A (p.Val45Met)	RAPSN (V45M)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 11 +3 more	GPathogenic/Likely pathogenic
Select item 8054	NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)	RAPSN (R164C)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +3 more	GPathogenic/Likely pathogenic
Select item 8052	NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)	RAPSN (L283P)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +5 more	GConflicting classifications of pathogenicity
Select item 8051	NM_005055.5(RAPSN):c.-210A>G	RAPSN	Single nucleotide variant	Fetal akinesia deformation sequence 2 +3 more	GPathogenic/Likely pathogenic
Select item 8048	NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs)	RAPSN (F185fs)	Duplication (frameshift variant)	Fetal akinesia deformation sequence 1 +3 more	GPathogenic/Likely pathogenic
Select item 8047	NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)	RAPSN (L14P)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 2 +2 more	GPathogenic/Likely pathogenic
Select item 8046	NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)	RAPSN (N88K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic

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Items: 78